Evaluating the risk of ovarian cancer before surgery using the ADNEX model: a multicentre external validation study.

BACKGROUND: The International Ovarian Tumour Analysis (IOTA) group have developed the ADNEX (The Assessment of Different NEoplasias in the adneXa) model to predict the risk that an ovarian mass is benign, borderline, stage I, stages II-IV or metastatic. We aimed to externally validate the ADNEX model in the hands of examiners with varied training and experience. METHODS: This was a multicentre cross-sectional cohort study for diagnostic accuracy. Patients were recruited from three cancer centres in Europe. Patients who underwent transvaginal ultrasonography and had a histological diagnosis of surgically removed tissue were included. The diagnostic performance of the ADNEX model with and without the use of CA125 as a predictor was calculated. RESULTS: Data from 610 women were analysed. The overall prevalence of malignancy was 30%. The area under the receiver operator curve (AUC) for the ADNEX diagnostic performance to differentiate between benign and malignant masses was 0.937 (95% CI: 0.915-0.954) when CA125 was included, and 0.925 (95% CI: 0.902-0.943) when CA125 was excluded. The calibration plots suggest good correspondence between the total predicted risk of malignancy and the observed proportion of malignancies. The model showed good discrimination between the different subtypes. CONCLUSIONS: The performance of the ADNEX model retains its performance on external validation in the hands of ultrasound examiners with varied training and experience.

A primary lesion of advanced melanoma in pregnancy: case report and review of literature of the advanced cases in the last ten years.

INTRODUCTION: Pregnancy- associated melanoma (PAM) is reported between 2.8 and 5.0 per 100,000 pregnancies and approximately 35% of women with melanoma are of childbearing age. The diagnosis and treatment of melanoma during pregnancy needs a balance of risks and benefits for both maternal and fetal well-being. It is a type of malignancy, which requires a multidisciplinary approach, not limited to the obstetrician, but also to oncologists, neonatologists, pharmacists and psychologists. MATERIAL AND METHODS: We present a case of a 36-year-old pregnant woman, who was admitted to our 3rd level Unit of Obstetrics and Gynecology (ARNAS Garibaldi Nesima) at 27 weeks and 2 days of gestation, with a diagnosis of suspected infection, then diagnosed as an advanced melanoma, which caused a premature delivery. A review of the literature of the last ten years from the international electronic bibliographic databases PUBMED was performed following the PRISMA Statement (Preferred Reporting Items for Systematic Reviews and Meta-Analysis). The search was limited to studies reported in the English language. We only included articles that followed our eligibility criteria, represented by: pregnant women with a diagnosis of advanced melanoma in pregnancy, with special reference to maternal, fetal or perinatal outcomes. RESULTS: The patient was affected by an 11 cm pregnancy-associated melanoma in the lower part back, with 2 hepatic metastasis. Due to the quickly development of general symptoms of sepsis it was decided to perform an urgent C-section. For the systematic review, we found 11 articles of advanced clinical melanoma, providing data from 12 patients. Maternal-perinatal outcomes is different depending on gestational age, general clinical condition, stage at diagnosis. CONCLUSION: Advanced melanoma is usually associated with a higher rate of termination of pregnancy, If the pregnancy continues, for the mother is associated with an higher risk of Cesarean section, sepsis, maternal progression of disease; for the baby is associated with prematurity, low birth weight, neonatal metastatic disease, neonatal morbidity and mortality. The future aim of clinicians should be the creation of an international database of the clinical cases of pregnancy-associated melanoma, to evaluate the same data, to improve treatments, to develop common protocols, and, finally, to improve the obstetric and perinatal outcomes.

Cytoreductive surgery (cs) and hyperthermic intraperitoneal chemotherapy (hipec) in treatment of peritoneal surface malignances: report of a phase II clinical study.

Peritoneal surface malignancy is the expression of a spectrum of disease involving the peritoneum primary or secondary to gastrointestinal and gynecological neoplasms. Even if intraperitoneal therapy has now been demonstrated in multiple randomized trials to improve the outcome of chemotherapy for patients with optimally debulked or small volume ovarian carcinoma, it is believed that peritoneal carcinomatosis is considered an advanced stage of disease; for this reason, it is treated with systemic chemotherapy and surgery plays only a palliative role (1). In the last twenty years, some centres have developed surgical treatment of peritoneal carcinomatosis that involves aggressive cytoreductive surgery associated with hyperthermic intraperitoneal chemotherapy. This treatment has improved and prolonged survival, despite the associated high morbidities and mortalities (3-14).

Prenatal diagnosis of androgen insensitivity syndrome.

Androgen insensitivity syndrome (AIS) (OMIM 300068) is an X-linked recessive genetic disorder with an XY karyotype that is caused by androgen receptor (AR) defects. We report a prenatal diagnosis case with clinical and molecular findings. The fetal phenotype was female, moreover the autopsy revealed the presence of abdominal testes confirmed by histopathological examination. The AR gene molecular analysis performed on the fetal DNA showed the presence of a c.2493C>T change in exon 4. The single nucleotide change resulted in a Q711X amino acid substitution within the AR ligand-binding domain of the protein that has never been described before in the literature. AIS is an important consideration in pregnancies that show sex discordance in ultrasonography and karyotype results with the opportunity to perform molecular analysis of the AR gene in order to confirm the diagnosis.

Topical kanamycin: an effective therapeutic option in aerobic vaginitis.

Eighty-one patients with clinical diagnosis of aerobic vaginitis (AV) were included in the study. The patients were randomized for treatment, 45 with kanamycin (100 mg vaginal ovules for 6 days, consecutively) and 36 with meclocycline (35 mg vaginal ovules for 6 days, consecutively). The patients were examined before starting the study, 1-2 days after treatment and 30 days after the end of the study. At the first follow-up the patients showed different levels of symptom reduction. Reduction in the presence of leukocytes, vaginal mucosa burning and itching were statistically significant in the group treated with kanamycin with respect to the group treated with meclocycline. Moreover, there was also reduced isolation of Enterobacteriaeae (97%) in the group treated with kanamycin versus those treated with meclocycline (76%). At the second follow-up, vaginal homeostasis (normalization of pH and presence of lactobacilli) was more evident in the kanamycin-treated group. In conclusion, our data suggest that the topical use of kanamycin could be considered a specific antibiotic for the therapy of this new pathology.

A randomized comparison of vaginal prostaglandin E2 with oxytocin plus amniotomy for induction of labour in women with intermediately ripe cervices.

OBJECTIVE: To compare the effects of oxytocin and amniotomy or vaginal prostaglandin E2 (PGE2) for induction of labour. STUDY DESIGN: We conducted a randomized clinical trial. Eligible for the trial were women with normal pregnancy, parity 0-3, with intact membranes, >40 weeks of gestation documented by ultrasound examination before 20 weeks gestation, observed in a network of 13 general and teaching hospitals in Italy. Inclusion criteria were cervical Bishop's score 5-7, less than six uterine contractions per hour, single pregnancy, cephalic presentation, no history of cesarean section and uterine surgery. Eligible women were randomly assigned by phone to oxytocin plus amniotomy (163 women) or vaginal PGE2 2 mg, two doses at 6-h intervals (157 women). RESULTS: Overall, 50 women (15.6%) delivered by cesarean section, 22 (13.5%) randomized to oxytocin, and 28 (17.8%) randomized to PGE2 (not significant). Twelve hours after randomization, induction had failed in 26 women of the 163 randomized to oxytocin plus amniotomy (21.6%) and 34 out of the 157 randomized to PGE2 (15.9%): the difference was not significant. Neonatal outcome was similar in the two groups. CONCLUSIONS: This study did not find marked differences in labour and neonatal outcome between women randomized to oxytocin plus amniotomy or vaginal PGE2. A shorter induction delivery interval in the group receiving amniotomy and oxytocin after PGE2 priming was observed.

The role of maternal reproductive history in the aetiology of neural tube defects.

The contribution of environmental factors to the aetiology of neural tube defects (NTD) has been stressed over recent years and many different risk factors have been proposed. We evaluated the reproductive history of 113 NTD cases to investigate the possible role of maternal age, gestational age, sex, parity and previous pregnancy. Our results show that parity and previous spontaneous abortion can be considered as risk factors for NTD and that an accurate evaluation of reproductive history can be useful for genetic counselling. The known benefits of periconceptional intervention in reducing the incidence of NTD in high risk populations, together with our results, means that mothers with a positive reproductive history for spontaneous abortion and for multiparity are ideal subjects for folic acid periconceptional management.

Pre-auricular tags and associated anomalies: considerations for genetic counseling.

Pre-auricular tags are relatively common isolated congenital anomalies with a prevalence of about 5 per 1000 live births. Several associations with congenital anomalies have been reported and the opportunity of systematic ultrasonography examinations in these patients were debated in the literature. We conducted a retrospective epidemiological study on 95 affected newborns, to evaluate whether infants with pre-auricular tags may be at risk for associated anomalies. Our results focus the attention on the increased risk of congenital urinary tract and heart malformations in newborns with isolated pre-auricular tags. Therefore, we recommend that a carefully genetic clinical examination to evaluated dysmorphic features evocative of a specific pattern or syndrome and an urinary and cardiac ultrasonography should be performed in infants with isolated pre-auricular tags.

Isolated hypertrophic pyloric stenosis and perinatal factors.

Infantile hypertrophic pyloric stenosis (IHPS) is a common condition requiring surgical intervention during the first weeks of life. Up to now the exact etiology of IHPS remains unclear and it is probable that several predisposing risk factors would be associated with the condition. Prompted by the observation that some perinatal factors may be involved in IHPS etiology, we evaluated 171 isolated cases referred to the Sicilian Registry of Congenital Anomalies. Our results show that some perinatal factors like sex ratio imbalance and parity are associated with IHPS, but further investigation is needed to clarify the relationship between genes and other factors involved in IHPS etiology. Therefore the presence of these perinatal factors may be accurately evaluated in genetic counseling to provide a perspective of recurrence prevention.

Prenatal 2-dimensional and 3-dimensional ultrasonography diagnosis and autoptic findings of isolated ectopia cordis.

Ectopia cordis is a very rare congenital malformation, commonly associated with intracardiac anomalies. It is due to a defect in fusion of the anterior chest wall resulting in an extrathoracic location of the heart. We report prenatal 2-dimensional (2D) and 3D ultrasonography diagnosis and postnatal autoptic findings of an isolated ectopia cordis with tricuspid atresia. Ectopia cordis prenatal diagnosis is easily made with ultrasound by visualizing the heart outside the thoracic cavity. 3D ultrasonography may add more detailed visualization of the heart anomaly even if the 2D ultrasonography alone permits the prenatal diagnosis. Obstetrical management should include a careful search for associated anomalies, especially cardiac, and the assessment of fetal karyotype. As this is considered a sporadic anomaly, the recurrence risk is low and no genetic origin is known.

The significance of the furosemide test for predicting ascites control by diuretics in cirrhotics: a comparison with volume expansion and octreotide infusion.

To verify prospectively the usefulness of the furosemide-induced natriuresis test in predicting ascites control by medical treatment, 15 stable cirrhotics (9 male) with ascites were studied. Sodium excretion was measured after this test and after volume expansion with saline associated with intravenous infusion of octreotide; 6 months later, response to medical treatment was rated as good (N=9) or poor (N=6). Patients with poor ascites control had lower sodium excretion with the furosemide-induced natriuresis test (median, 88 vs 201 mmol; P < 0.01). Poor control was observed in four of four patients with sodium excretion < or =125 mmol, and good control in six of six patients with sodium excretion >175 mmol (P < 0.002). Volume expansion was followed by limited natriuresis (median, 20 mmol), in inverse relationship with plasma active renin concentration (P < 0.001). In conclusion, long-term ascites control is well predicted by the furosemide-induced natriuresis test.

Prenatal and postnatal findings of acrania.

INTRODUCTION: Acrania is a rare congenital anomaly in which the flat bones of the cranial vault are partial or complete absent with complete but abnormal development of the cerebral hemispheres. CASE REPORT: We report two cases, diagnosed prenatally by ultrasound and followed by medical pregnancy termination, one with isolated acrania and one with associated cleft lip and palate and spina bifida. DISCUSSION: The acrania pathogenesis is unknown and differential diagnosis should be made with other conditions like anencephaly and acalvaria. Genetic counselling is not easy because there is no evidence for a specific genetic origin, but the extreme rarity and sporadic nature suggests a low recurrence risk.

Sex ratio imbalance in transposition of the great arteries and possible agricultural environmental risk factors.

A significant bias in sex ratio has been documented for several congenital cardiac malformations. Transposition of the great arteries has been associated with a such a bias but no explanation has been proposed for this bias. We evaluated 95 isolated livebirths with transposition of the great arteries cases referred to the Sicilian Registry of Congenital Malformations from 1991 to 1998. We found a statistically significant male bias of 2.8 and this was significantly associated with both maternal and paternal occupational exposure to agricultural chemicals for male infants with transposition, but not for female infants. This study raises new questions about the possible role played by environmental chemicals in relationship to birth defects and to sex ratio imbalance.